Paediatric Palliative Care in a Reference Centre of Inherited Metabolic Diseases.

INTRODUCTION: Paediatric palliative care (PPC) has a significant role in improving the quality of life of children with life-limiting or life-threatening illnesses, diminishing symptom burden, and providing holistic support to patients and families. Inherited metabolic diseases (IMD) are a group of heterogeneous diseases that often present with severe neurologic impairment, needing lifelong care and challenging symptom management. OBJECTIVE: Our aim was to characterize the cohort of patients with IMD followed by the paediatric palliative care team (PPCT) and to describe the provision of care provided. METHODS: The descriptive analysis of demographic, clinical, and care delivery data of a cohort of paediatric patients was carried out with a confirmed diagnosis of IMD, followed in a Reference Centre, in the care of PPCT between 2018 and 2023. RESULTS: Thirteen (10%) of a total of 134 patients in the care of PPCT had a confirmed diagnosis of an IMD: 6 mitochondrial, 3 peroxisomal, 3 lysosomal, and 1 pterin metabolism disorder. The median age at referral was 9 years (0-18), the median duration of care was 2 years [2-4], median number of home visits in the last year was 2 [1-4], and median number of outpatient consults was 4 [2 -8]. Twelve patients (92%) had no autonomy in their activities of daily living. Neurologic (100%), gastrointestinal (92%), and respiratory (69%) symptoms were the main focus of care. All patients were polymedicated (5 or more different drugs). Nine (69%) had percutaneous gastrostomy and 2 (15%) had noninvasive ventilation. Median hospital admissions before and after starting care by PPCT were 4 and 1. Moreover, three patients died and one was at home. CONCLUSION: Mitochondrial, lysosomal, and peroxisomal disorders are complex multisystemic diseases that very often have no treatment intended to cure. These patients have a heavy symptom burden and frequent intercurrences. Addressing these symptoms is challenging, but PPC has proven to reduce hospital admissions with consequent improvement in quality of life. In the future, PPC should be available for all children and families with life-threatening conditions.

Clinical and Therapeutic Approach to Hospitalized COVID-19 Patients: A Pediatric Cohort in Portugal.

INTRODUCTION: Coronavirus disease 2019, or COVID-19, in children is usually a mild disease, but severe illness has been reported. Currently, the therapy benefits of antiviral experimental drugs are still uncertain. The main aim of this study is to describe the experience of a level III hospital regarding therapeutic management of hospitalized children with COVID-19 and to characterize clinical features and evolution. MATERIAL AND METHODS: This is a descriptive study of patients with COVID-19 in a level III pediatric hospital in Portugal between March and June 2020. Experimental drugs were administered according to the best scientific evidence at the time as 'off-label use'. RESULTS: Among 200 children with SARS-CoV-2 infection, 37 were admitted due to COVID-19. Median age was one year (23 days - 18 years), 43% had comorbidities and 20/37 (54%) received antiviral therapy. Hydroxychloroquine was administered in 13 patients, in monotherapy or combined with lopinavir/ritonavir or azithromycin. Lopinavir/ritonavir was administered in eight patients and three children were treated with remdesivir. The patients who were treated had pneumonia (14), multisystem inflammatory syndrome in children (2), sepsis (2), myocarditis (1), acute respiratory distress syndrome (1), and mild illness with comorbidities (3). Other therapies included methylprednisolone and immunoglobulin (3), enoxaparin (2), antibiotics (16), oxygen (7), corticosteroids, and other inhaled therapy (16). DISCUSSION: Several treatment approaches have been proposed for severe COVID-19, even though none of them had been proven effective or approved for small children. Currently, remdesivir is approved for children aged above 12 years-old. Although 54% of our patients were treated with antivirals, it is important to understand that the favorable clinical evolution could be related with the natural course of the disease. CONCLUSION: A significant proportion of our population presented severe and critical disease, was hospitalized and received treatment according to the most recent data, although most patients had mild disease. COVID-19 treatment in children is a clinical challenge and clinical trials are urgently needed.

Introdução: A infeção SARS-CoV-2 em idade pediátrica cursa maioritariamente com doença ligeira. No entanto, pode ocorrer doença grave, ainda que com menor frequência. Atualmente, os benefícios das terapêuticas antivirais experimentais ainda são incertos. O objetivo deste estudo consiste em descrever a experiência de um hospital terciário no tratamento de crianças internadas por COVID-19 e caracterizar a clínica e evolução. Material e Métodos: Estudo descritivo em doentes até aos 18 anos de idade, internados com COVID-19 num hospital pediátrico de nível III em Portugal, de março a junho de 2020. Os fármacos antivirais foram administrados em regime de off-label. Resultados: Identificaram-se 200 casos de infeção SARS-CoV-2, dos quais 37 foram internados com COVID-19. A idade mediana foi de um ano (23 dias - 18 anos), 43% apresentavam comorbilidades e 20/37 (54%) receberam terapêutica antiviral. A hidroxicloroquina foi administrada em 13 doentes em monoterapia ou associada a lopinavir/ritonavir ou azitromicina. O lopinavir/ritonavir foi utilizado em oito doentes e três doentes receberam remdesivir. O tratamento antiviral foi aplicado a doentes com pneumonia (14), sépsis (2), síndrome inflamatório multisistémico pediátrico (2), síndrome dificuldade respiratória aguda (1), miocardite (1) e crianças com doença ligeira e comorbilidades (3). Realizaram-se também outras terapêuticas que incluíram metilprednisolona e imunoglobulina (3), enoxaparina (2), antibióticos (16), oxigenoterapia (7) e broncodilatadores e corticoides inalados (16). Discussão: Diversas abordagens terapêuticas têm sido sugeridas para casos graves de COVID-19, embora nenhuma seja até à data considerada eficaz, ou esteja aprovada em crianças pequenas. Atualmente, o remdesivir está aprovado para idades superiores a 12 anos. Apesar de 54% dos nossos doentes terem sido tratados com antivirais, é importante compreender que a evolução favorável poderá ter estado associada à evolução natural da doença. Conclusão: Uma percentagem significativa da população apresentou doença grave a crítica, com necessidade de internamento e tratamento, este último definido com base nas recomendações da comunidade científica à data, embora a maioria apresentasse doença ligeira. O tratamento da COVID-19 em idade pediátrica é um desafio, sendo urgente realizar ensaios clínicos relativos a esta matéria.